April 30-May 31 Flashcards
1
Q
sporotrichosis
A
a subcutaneous fungal infection caused by sporothrix schenckii
dimorphic fungus found in the natural environment in the form of mold (hyphae)
resides on the bark of tress, shrubs, and garden plants and on plant debris in soil
enters thru breaks in the skin and spreads along lymphatics
histo: granuloma with histiocytes, multinucleated giant cells, and neurophils surrounded by plasma cells
2
Q
midgut volvulus
A
at 6 weeks gestation, midgut (SMA) herniates through the umbilical ring
incomplete counter clockwise rotation results in midgut malrotation
cecum rests in RUQ and Ladd’s fibrous bands connect the retroperitoneum in the RLQ to the right colon/cecum by passing over the 2nd part of duodenum
billious emesis during the first days of life
3
Q
apoliporpotein E-4 allele
A
homozygotes: late onset familial Alzheimer disease
ApoE4 protein might be involved in the formation of senile plaques
4
Q
avascular necrosis
A
caused by sickle cell disease, vasculitis, high dose corticosteroid treatment, alcoholism
presents with chronic, progressive groin and hip pain that is exacerbated by weight bearing
5
Q
carcinoid heart disease
A
excessive secretion of serotonin stimulates fibroblast growth and fibrogenesis
cardinoids are well differentiated neuroendocrine tumors that are found most commonly in the distal small intestine and proximal colon, with a strong propensity for metastasis to the liver
6
Q
triglyceride metabolism
A
triglyceride–>glycerol+FFA–>glycerol3P–>DHAP–>energy and glucose
7
Q
cardiac tamponade
A
hypotension, tachycardia, jugular venous distension with clear lungs, pulsus paradoxus (palpable pulse during inspirationand >10 mmHg decrease in SBP on inspiration)
viral pericarditis can be a precipitating cause
8
Q
narcolepsy
A
chronic sleep disorder characterized by frequent overwhelming urges to sleep
cataplexy: sudden loss of muscle tone that occurs in respone to intense emotions
caused by depletion of hypocretin-secreting neurons in lateral hypothalamus
shortened sleep latency and enter REM sleep almost immediately
experience intrusions of REM sleep
9
Q
hypersomnolence
A
excessive and impairing daytime sleepiness that can’t be explained by another sleep disorder
persistent daytime sleepiness rather than sleep attacks
typically do not feel refreshed after naps (like narcolepsy)
10
Q
orbital floor
A
comprised of zygomatic bone and maxilla
infraorbital nerve (from maxillary) runs along the orbital surface of the maxilla in the infraorbital groove before transversing the infraorbital canal and exiting the skull via the infraorbital foramen
damage results in: numbness and paresthesia of the upper cheek, upper lip, and upper gingiva
can also cause enophthalmos and entrapment of the inferior rectus muscle
11
Q
internal hemorrhoids
A
originate above the dentate line
abnormal distension of the anal arteriovenous plexus which normally forms the anal cusions
chronically increased venous pressure due to prolonged straining or breakdown of supporting tissue due to advancing age
rubber band ligation include superior rectal vein and inferior mesenteric vein
no somatic sensory nerves so can’t be painful
12
Q
external hemorrhoids
A
originate below the dentate line
drain via the inferior rectal vein into the internal pudendal vein which communicates with the internal iliac veins
innervated by sensory nerves that cover the perianal area and are very sensitive
13
Q
hydrocele of the testicle
A
collection of peritoneal fluid within the tunica vaginalis that occurs when it remains patent and allows peritoneal fluid to accumulate in the tunica vaginalis
presents in newborns as a painless scrotal swelling that transilluminates
14
Q
high altitudes
A
PiO2 falls which leads to low PaO2
hyperventilation leads to decreased paCO2–>respiratory alkalosis, increased pH
loss of HCO3 occurs 1-2 days later
compensatory to long term: increased 2,3-DPG, increased hemoglobin, increased pulmonary diffusing capacity, VEGF increase, increased mitochondria, hemoconcentration
15
Q
genetic reassortment
A
influenza viruses have surface proteins of HA and NA which are under constant selective pressure both to maintain species specific virulence and evade immune recognition
segmented genome coded by separate RNA segments allows for genetic reassortment
16
Q
streptococcus pyogenes
A
major virulence factor: Protein M–> inhibits phagocytosis and complement activation
Streptolysin O and DNAse both are specific for s. pyogenes but don’t convey resistance to phagocytosis
17
Q
pyridoxine
A
vitamin B6
used for the transamination and decarboxylation of amino acids, gluconeogensis, and other biochem properties
typically occur between an amino acid and a-keto acid
18
Q
cholesterol gallstones
A
increased cholesterol, decreased bile salts, decreased phosphatyidylcholine
presents as 1 month history of dull abdominal pain that occurs after eating
localized to the RUQ and especially severe after fatty meals
uS reveals several mobile, echogenic foci within the gallbladder lumen
19
Q
doxycycline
A
tetracycline antibiotic
causes teeth staining in babies due to localization in the enamel and dentin of developing teeth
20
Q
a1 agonist
A
contraction of the pupillary dilator muscle (mydriasis)
example: phenylephrine
21
Q
B2 agonist
A
uterine relaxation used in labor to defer premature labor
include riodrine and terbutaline
22
Q
congenital rubella syndrome
A
predominantly characterized by neonatal defects of the head (microcephaly, mental retardation), eyes (cataracts), ears (deafness), and heart/CV system (PDA, peripheral pulmonic stenosis)
most classic triad: congenital cataracts (white pupils), sensory neural deafness, and PDA
live attenuated rubella virus vaccine is recommended at 12-15 mos and at 4-6 yrs but also in nonpregnant woman of childbearing age who lack serum antibody against rubella
23
Q
thiazolidinedione
A
class of medications that decrease insulin resistance by binding to PPAR-y which activates transcriptional regulators of GLUT4 and adiponectin
24
Q
tx anion gap metabolic acidosis due to DKA
A
insulin and hydration
insulin allows cells to use glucose as an energy source to decrease lipolysis and production of ketone bodies leads to increased serum HCO3
intracellular shift of potassium resulting in a decrease in serum potassium level
rehyrdation with normal saline leads to normalized serum sodium concentration and decreased osmolality
25
kinesin
if knocked out, secretory vesicles in nerve terminals are absent
kinesin is a microtubule associated motor protein whose function is anterograde transport of intracellular vesicles and organelles toward the plus end of microtubules
26
porphyria cutanea tarda
most common disorder of porphyrin syntehsis
following PBG conversion causes photosensitivity
caused by uroporphyrinogen decarboxylase deficiency which is either inherited or more commonly acquired int he presence of iron and of susceptibility factors
27
vitamin deficiencies in gastrojejunostomy
Iron, vitamin B12, folate, fat soluble vitamins, and calcium
28
congenital toxoplasmosis
hydrocephalus, intracranial calcifications, and chorioretinitis
hepatosplenomegaly, rash, multiple neurological abnormalities such as seizures, altered muscle tone, ocular movement defects
transmitted transplacentally by cat litter in the first 6 months of pregnancy
29
thiamine deficiency
infantile beriberi: 2-3 mos, fulminant cardiac syndrome with cardiomegaly, tachycardia, cyanosis, dyspnea, and vomiting
adult beriberi: dry (symmetrical peripheral neuropathy of distal extremities with sensory and motor impairment) and wet ( cardiomyopathy, HO congestive heart failure, peripheral edema, tachycardia)
CNS involvement: Wernicke Korsakoff in alcoholics
30
SRY gene
on Y chromosome
allows XY embryos to develop testes
Sertoli cells: suppress female internal organs by AMH, also produce androgen binding protein which concentrates testosterone in the seminiferous tubules
Leydig cells: secrete testosterone which stimulates Wolffian ducts to develop into internal male organs and external male organs
31
hypoxic vasoconstriction
occurs in the pulmonary circulation so that blood flow is diverted away from underventilated regions of the lungs and towards better ventilated areas where gas exchange occurs more efficiently
MOA: increase in pulmonary artery smooth muscle Ca2+levels
32
generalized anxiety disorder
excessive and chronic worry, feeling on edge, muscle tension, and insomnia
multiple worries about every day issues
treated with CBT and SSRIS/SNRIs
33
AV node
located on the endocardial surface of the RA near the insertion of the septal leaflet of the tricuspid valve and the orifice of the coronary sinus
34
pasteurella multocida
organism found in the mouths of dogs
occurs within 24 hours and has a mouse like odor due to being indole positive
amoxicillin-clavulanate
35
Type I Interferons
synthesized by human cells in response to viral infections leads to transcription of antiviral enzymes capable of halting protein syntehsis such as RNAse L and protein kinase R
become active only in the presence of dsRNA and allows them to selectively inhibit viral infected cells
36
spironolactone
aldosterone receptor antanogist (with epleronone)
inhibit the effect of aldosterone at the coritcal collecting ducts and collecting tubules
reduces secretion of K+ and h+ by the collecting tubule
37
splinter hemorrhages
Janeway lesions and splinter hemorrhagic streas in the nail bed that appear because of microemboli
38
primary spontaneous pneumothorax
nontraumatic and is found in patients without preexisting lung disease
causes when a large change in pressure results in a break in the visceral pleura
39
4 niacin dependent enzymes in TCA cycle
pyruvate dehydrogenase
isocitrate dehydrogenase
a-ketoglutarate dehydrogenase complex
malate dehydrogenase
40
pellagra
photosensative dermatitis, diarrhea, dementia due to vitamin B3 deficiency
seen in malnourished populations like alcoholism or GI malabsorption
41
telomerase
ribonucleoprotein that adds TTAGGG repeats to the 3' end of chromosomes
similar to reverse transcriptase enzymes in that it syntheseizes ssDNA using ssRNA as a template
42
hemophilia
X linked recessive bleeding disorder due to decreased levels of factor VIII or IX
components of the intrinsic coagulation pathway and activate factor X
thrombin makes up for the deficiency and leads to blood clotting
43
radial nerve
innervates extensors of the upper limb below the shoulder and provides sensory to the skin of the posterior arm, forearm, and dorsal lateral hand
44
ulnar nerve
weakness in wrist flexion
weakness in finger abduction and thumb adduction
45
median nerve
wrist flexion
thumb opposition
46
obturator nerve
caused by anterior hip dislocation or surgery
decreases thigh adduction
47
femoral nerve
pelvic fracture or mass
flexion of thigh, extension of leg
sensory: anterior/medial thigh and calf
48
common peroneal
fibular neck fracture
lateral calf and dorsal foot
foot eversion, dorsiflexion, toe extension
49
galactosemia
lactose is broken down into galactose and glucose
galactose is then phosphorylated to galactose 1P by GALk
deficiency in GALK leads to increased galacitol--> cataracts
late presentation and normal growth
if GALT deficiency, increased galactose 1 phosphate and more severe
50
acalculous cholecystitis
acute inflammation of the gallbladder in the absence of gallstones
commonly occurs in critically ill patients and is associated with high mortality
arises secondary to gallbladder stasis and ischemia
fever, RUQ, positive murphys, leukocytosis, mild elevation sin LFTs
no gallstones
51
permissiveness
when one hormone allows another to exert its maximal effect
52
HPV
double stranded nonenveloped DNA virus with a predilection for squamous epithelium of the skin and vagina
koilocytes on pap smear
53
familial dysbetalipoproteinemia
defects in ApoE3/E4
found on triglyceride rich lipoproteins like chylomicrons and VLDLs
without them, liver can't efficiently remove chylomicrons and VLDL remnants from the circulation
disease characterised by xanthomas and premature coronary and peripheral vascular disease
autosomal recessive
54
tinea corporis
annular scaling plaque with well demarcated, raised erythematous borders and central clearing
terbinafine: allylamines; inhibits synthesis of ergosterol of the fungal membrane by inhibiting the enzyme squalene epoxidase
55
tumor lysis syndrome
uric acid crystals precipitate in an acidic environment like the distal tubules and the collecting ducts
obstructive uropathy and acute renal failure follow
tx: urine alkalization and hydration + allopurinol
56
Western blot
Used to detect a target polypeptide or protein from within a mixed sample
Proteins separated by gel electrophoresis then transferred to a membrane and probed with a primary antibody specific for the protein of interest
Membrane is then washed and treated with a secondary marked antibody that binds to the primary antibody and can be detected
Similar to ELISA, but in ELISA they test the serum directly
57
Northern blot
Analyzes mRNA
Large number of mRNA molecules is separated by gel electrophoresis
Then transferred to a membrane and hybridized
58
Southern blot
Analyzes DNA sequences that have been fragmented using restriction endonucleases
Radiolabeled DNA probe containing a sequence complementary to an area of interest is then used for hybridization
Can detect restriction site mutations because they alter DNA fragment lengths
59
Anaphylaxis
Type I hypersensitivity reaction characterized by vascular permeability and multisystem edema
Leads to massive shift of Intravascular fluid to the extravascular compartment
Results from widespread mast cell and basophils degranulation—>leads to release of histamine and tryptase
High affinity IgE receptor aggregation is found on mast cells and basophils and leads to a primary role in mediating the allergic response
Multiple IgE antibodies become cross linked resulting in aggregation of the FceRI receptors on the mast cell surface
60
Insulin
Causes activation of PFK-2 ( increased fructose 2,6-bisphosphonate levels and increased glycolysis)
This leads to inhibition of gluconeogenesis and decreased conversion of alanine and other gluconeogenic substrates to glucose
61
Familial erythrocytes is
B glob in mutation results in reduced binding of 2,3-BPG which leads to increased oxygen affinity of hemoglobin
62
Phenylketonuria
Severe intellectual disability, history of seizures, and abnormal pallor of catecholaminergic brain nuclei on autopsy
Results from the inability to convert phenylalanine to tyrosine (rxn enzyme: phenylalanine hydroxylase)
Requires BH4
Excess phenylalanine and the presence of large concentrations of its metabolites contribute to the brain damage, and have inhibitory effects on melanin synthesis leading to hypopigmentation
63
Cholestyramine
Anti hyperlinked is agent that causes an INCREASE in triglyceride levels
MOA: bile acid resin that inhibits enterohepatic circulation; results in increased synthesis of new bile acids, increased uptake of LDL, and reduced blood lDL
AE: GI upset and impaired absorption of nutrients and drugs, hypertriglyceridemia
64
Loop diuretics
Inhibit Na-K-2Cl symporters in the ascending limb of the loop of Henley
Leads to increased Na, Cl, and fluid excretion
Stimulates prostaglandin release—>vasodilation—>increased GFR and enhanced drug delivery
Inhibited by NSAIDs
65
Diastolic heart failure
Common cause of acute decompensated HF
Characterized by normal left ventricular ejection fraction and end diastolic volume in the setting of increased LV filling pressure
LV diastolic pressure is determined by the blood volume in the LV cavity and compliance of the left ventricle
66
Ulcerative colitis
Recurrent abdominal pain and bloody diarrhea with CT evidence of bowel wall thickening in the distal colon and rectum
Chronic inflammatory conditions are characterized by persistent stimulation of neutrophils and macrophages—>IL1, IL6, TNFa, IFNy
Increased acute phase reactants
Increased ESR
67
Vertebral osteomyelitis
Should be suspected in patients with new or worsening back pain, fever, and recent endocarditis or bacteremia (especially s. Aureus)
Initial evaluation: blood cultures and MRI
68
C section delivery
Midline vertical separation of the rectus abdominals muscle
Horizontal can be considered when more space is needed—>inferior epigastric arteries could be cut
69
Acute tubular necrosis
Due to decreased renal perfusion during his cardiac arrest
Presents with increased serum creatinine and BUN, normal BUN/Cr ratio, Liguria
Predominantly affects the renal medulla. Straight portion of PCT and thick ascending loop of Henle are particularly susceptible
Characterized by flattening of the proximal tubular epithelial cells with loss of brush border and subsequent cell necrosis and denudation of the tubular basement membrane
Muddy brown casts seen
70
Secondary syphilis
Fever, arthralgias, diffuse lymphadenopathy, and widespread maculopapular rash raises suspicions for this
Nontreponemal serologic tests mix patient’s serum with a cardio lipin-cholesterol-lecithin agent
Anti cardio lip in develop in response to the release of lipids from cells damaged by T. Pallium
71
Clostridium perfringens
Rapid metabolism of muscle tissue carbs produces significant amounts of gas—>gas gangrene
Lecithinase is the main toxin: also known as phospholipase C or alpha toxin, catalyzes the splitting of phospholipid molecules
Loses lecithin containing lipoprotein complexes in cell membranes causing cell lysis, tissue necrosis, and edema
72
Acute intermittent porphyria
Autosomal dominant disorder of heme synthesis pathway caused by porphobilinogen delaminates deficiency
Causes nervous system dysfunction due to accumulation of early heme pathway intermediates (PBG and ALA)
Presents acutely with variable GI and neuro symptoms
Reddish urine that darkens on exposure to light and air due to oxidation of excess PBG
Avoid alcohol, smoking, and CYP450 inducing drugs
73
SubQ insulin
Starts working in 30 mins
Peaks in 2-4 hours
Lasts 5-8 hrs
74
Alzheimer’s disease
Cortical atrophy and no other reversible causes
Drug choices:
1. Enhanced ACh (donepazil: cholinesterase inhibitor)
2. Neuroprotection via antioxidants (vitamin E)
3. NMDA antagonism (memantine)
75
Pancreatic buds
Dorsal: majority of pancreatic tissue (body, tail, most of the head)
Ventral: (uncinate, inferior/posterior head, major pancreatic duct of Wirsung)
76
Paroxysmal nocturnal hemoglobinuria
Disorder due to complement mediated hemolysis due to a mutated PIGA gene and decreased GPI anchor proteins
Attaches to CD55 that inactivated complement
Manifestations: fatigue and jaundice due to hemolytic anemia, thrombosis at atypical sites, pancytopenia
77
Patent ductus arteriosus
Continuous murmur along with inspiratory splitting of S2
Best heard in the left infraclavicular region with maximal intensity at S2
At risk patients: premature infants and those with cyanotic congenital heart disease
78
Vertebral venous plexus
Cancers of the pelvis spread to the lumbosacral spine through the vertebral venous plexus which communicates with a number of venous networks, including the prostatic venous plexus which receives venous blood from the prostate, penis and bladder
79
Diffuse esophageal spasm
Several segments of the esophagus contract inappropriately at the same time, which appears as disorganized non peristaltic contractions on esophageal manometry and corkscrew esophagus on barium esophagogram
Patients typically present with intermittent solid/liquid dysphasia, chest pain, heartburn, and food regurgitation
Pathogenesis: impaired inhibitory neurotransmission within the esophageal myenteric plexus
80
IV dopamine
Can’t cross the BBB due to tight junctions that prevent paracellular passage of fluid and solutes; composed of transmembrane proteins that associated with actin filaments forming a belt like seal around the apical intercellular space
Only permits the passage of substances from the blood to the brain via trans cellular movement
81
Wilson disease
Autosomal recessive mutation of the ATP7B gene that results in impaired cellular transport of copper
Leads to decreased copper in ceruloplasmin and reduced biliary copper excretion
Excess copper is cheated with d-penicillamine
82
Alkaptonuria
Marked by severe arthritis in adult life
Autosomal recessive
Caused by a deficiency of homogentisic acid deoxygenate
Deposits in connective tissue thru the body
Blue black deposits become apparat the in the sclera and ear cartilage
83
Where is type I collagen found? and what disease is associated with it?
dermis, bone, tendons, ligaments, dentin, cornea, blood vessels, scar tissue
osteogenesis imperfecta (autosomal dominant)
84
Where is type II collagen found?
cartilage, vitreous humor, and nulceus pulposus
85
where is type III collagen found? and what disease?
skin, lungs intestines, blood vessels, bone marrow, lymphatics, and granulation tissue
ehlers danlos syndrome
86
where is type IV collagen found and what disease is it associated with
basement membranes
alport syndrome
87
midshaft humerus fractures
deep brachial artery
| radial nerve: wrist drop
88
linkage disequilibrium
two genetic loci are in this when their respective alleles are inherited together in the same gamete more or less often than expected by chance alone
often the result of physical proximity
89
heteroplasmy
presence of different mitochondrial genomes within a single cell type
seen with mitochondrial diseases
90
penetrance
the proportion of people with a given genotype who express its associated phenotype
91
pleiotropy
occurence of multiple phenotypic manifestations in different organ systems which result from a mutation in a single gene
92
varicella zoster virus
enveloped dsDNA virus transmitted via respiratory drops
light microscopy shows intranuclear inclusions in keratinocytes and multinucleated giant cells on a positive tzanck smear
skin biopsy: acantholysis of keratinocytes and intraepidermal vesicles
93
pemphigus vulgaris
deposition of IgG containing deposits in a reticular pattern around keratinocytes
immune target: desmoglein 3
94
cavernous sinus thrombosis
commonly due to contiguous spread of an infection from the medial third of the face, sinuses, or teeth
common pathogens: staph aureus, strep, fungal: mucor and rhizopus
95
severe combined immune deficiency
presents in infancy--> impaired T and B cell development and function
eventual development of severe viral and bacterial infections
mucocutaneous candidiasis, persistent diarrhea, failure to thrive
low or absent CD3+ T cells and hypogammaglobulinemia
96
primary central nervous system lymphoma
diffuse, large B cell lymphoma
EBV origin
abnormal T lymphocytes is not commonly seen on brain biopsy
97
meniere disease
disorder of the inner ear characterized by increased volume and pressure of endolymph that is thought to be due to defective resoprtion of endolymph
causes low frequency tinnitus, vertigo, sensorineural hearing loss
98
cryptogenic stroke
frequently associated with patent foramen ovale (incomplete fusion of the septum fprimum and septum secundum) and atrial septal defect
99
nondepolarizing NMJ blockers
do not function in discrete phases; TOF responses always display a fading pattern
include vecuronium, pancuronium, and tubocurarine
reversed with neostigmine
100
depolarizing blocker
succinylcholine
prevent repolarizing in phase I and show equal reduction in all 4 twitches
persistent exposure results in eventual transition to phase II blockade where the AChR become desensitized and inactivated
101
chronic lymphedema
risk factor for the development of cutaneous angiosarcoma (Stewart Treves syndrome)
histo: infiltration of the dermis with slit like abnormal vascular spaces
prognosis poor
102
central scotoma
macular lesions impair central vision
refers to any visual defect surrounded by a relatively unimpaired field of vision
occur due to pathologic processes that involve parts of the retina or optic nerve
103
macular degeneration
progressive loss of central vision due to deposition of fatty tissue behind the retina and neovascularization of the retina
104
congenital toxoplasmosis
hydrocephalus, intracranial calcifications, and chorioretinitis
hepatosplenomegaly, rash, and neuro abnormalities such as seizures, altered muscle tone, and ocular movement defects
transmitted transplacentally i f the mother is infected during the first six months of pregnancy
105
PaCO2
decreased amounts of this substance due to hyperventilation causes vasoconstriction
this reduces blood volume and decreases ICP
106
myasthenia gravis characteristics
fluctuating weakness of voluntary muscles
progressive weakness over the course of the day or after exercise
decreased compound muscle action potential amplitude
rapid restoration of strength of affected muscles with rest
caused by autoantibodies against postsynaptic nicotinic acetylcholine receptors
107
gabapentin
anticonvulsant that works by inhibiting presynaptic voltage gated calcium channels
108
lactose intolerance
presents with intermittent flatulence, crampy abdominal pain, watery diarrhea and worsening symptoms after eating dairy
lactase nonpersistence: declining lactase expression in adulthood, seen in Asian and african populations
can be primary or secondary (caused by injury to mucosal brush border)
decreased lactose hydrolysis leads to acidic stool, increased breath hydrogen content, and elevated stool osmolality
109
acute serum sickness
type III hypersensitivity
fever, pruritic skin rash, arthralgias that begin 7-14 days after exposure to an antigen (penicillin, mAB, etc)
histo: fibrinoid necrosis and intense neutrophil infiltration, hypocomplementemia, MILD thrombocytopenia
110
cardiac abnoralities in down syndrome
hyperdynamic precordium, mid diastolic rumble at LSB ( INCREASED PULMONARY VENOUS RETURN), 3/6 holosystolic murmur in the apex that radiates to the left axilla (AV VALVE REGURG)
defects in the lower part of the interatrial septum and the interventricular septum
111
cardiac abnormalities in DiGeorge syndrome
tetralogy of fallot, truncus arteriosus, transposition of the great arteries
112
thiazide diuretics metabolic abnormalities
hypercalcemia
hyperglycemia
hypercholesterolemia
hyperuricemia
hyponatremia
hypokalemia
MOA: inhibition of the Na/Cl cotransporter in the distal tubule
113
familial hypocalciuric hypocalcemia
mild hypercemia, low calcium in the urine, high PTH, normal 25-hydroxyvitamin D
benign autosomal dominant disorder caused by a defective CaSR (transmembrane GPCR) in the parathyroid gland and kidneys
114
neurphysins
carrier proteins for oxytocin and vasopressin
produced within the neuronal cell bodies of hypothalamic nuclei
point mutation can result in abnormal protein folding and removal from ER leading to decreased vasopressin and central DI (autosomal dominant)
115
capitation
payment structuer underlying health maintenance organization provider networks
incentive for the provider and patient to reduce expenses by restricting patients to a limited panel of providers within the plan
116
SA node location
RA near opening of SVC
117
AV node location
RA near septal cusp of the tricuspid valve
118
methotrexate
folate antagonist
normal: folic acid-->DHF-->THF
methotrexate: inhibits DHF reductase leading to DHF which gets polyglutamated
119
Fragile X syndrome
mild intellectual disability
small gap near the tip of the long arm of X chromosome-->unstable expansion of trinucleotide repeats (CGG) in the FMR1 gene on long arm of X chromosome
when cultured in folate medium: broken area
classic physical features: macrocephaly, long narrow face, prominent forehead, jaw, chin, ears, macroorchidism
120
Wilson's disease
autosomal recessive; leads to toxic accumulation of copper within organ tissues
60% of copper is absorbed in the stomach and duodenum, then transported to the liver where it is incorporated into an A2 globulin to form ceruloplasmin
121
lipoatrophy
redistribution of fat; commonly occurs due to HAART
refers to loss of subcutaneous fat from the face, extremities, and buttocks. seen with NRTIs (stavudine and zidovudine) and protease inhibitors
122
adenomyosis
presence of endometrial glandular tissue within the myometrium
relatively common condition in middle aged parous females
sx: heavy menstrual bleeding due to increased endometrial surface and dysmenorrhea due to endometrial tissue growth in the confined myometrial space
123
left heart failure
dyspnea, bibasilar crackles, S3 sound in a patient with a recent MI= Left heart failure
MI-->decreased left ventricular contractility and reduced LV output, increased EDP
the high end diastolic pressure impairs return of blood which leads to transudation of fluid from the pulmonary capillaries into the lung tissues. This causes distortion and increased resistance to movement
124
congenital pyloric stenosis
males: 3:1
recurrent projectile nonbilious vomiting 2-3 weeks afterbirth
visible epigastric peristalsis and presence of an olive sized mass in the distal stomach or pyloris
olive mass is due to secondary hypertrophy of the pyloric muscularis mucosae
125
nitroglycerin MOA
metabolized in vascular smooth muscle cells to nitric oxide which activates guanylate cyclase and promotes the conversion of GTP to cGMP
increased levels of cGMP lead to decreased intracellular calcium and activation of myosin light chain phosphatase which promotes myosin light chain dephosphorylation and vascular smooth muscle relaxation
126
HAV
contaminated water or food (shellfish)
hepatomegaly, acute onset, malaise, fatigue, nausea, vomiting, mild abdominal pain, aversion to smoking, increased liver enzymes, bilirubin, alkaline phosphatase
127
cefuroxime
2nd gen cephalosporin
beta lactam antibiotic
128
streptomycin
aminoglycoside antibioitc that interferes with the 16srRNA of the bacterial 30S ribosomal subunit
resistance: mutations of ribosomal proteins that change the binding sites for the drug
129
i cell disease
autosomal recessive lysosomal storage disroder due to defects in protein targeting
present with failure to thrive and cognitive deficits in 1st year of life with characteristic facial features: coarse facial features, corneal clouding
golgi body phosphotransferase catalyzes the phosphorylation of mannose residues on lysosome bound proteins
130
valproate
neural tube defects
used to prevent migraines and treat epilepsy and bipolar disorder
interferes with folate metabolism
131
mucormycosis
mucor, rhizopus, absodia species--> broad, nonseptate hyphae that branch at wide angles
transmitted by spore inhalation
tend to infect the paranasal sinuses leading to complaints of facial and periorbital pain, headache, purulent nasal discharge
fungi proliferate in the walls of blood vessels and cause necrosis of the corresponding tissue
black eschar can be seen on palate or nasal turbinates
tx: surgical debridement and amphotericin B
132
COPD
increased TLC, RV
decreased FEV1/FVC, FVC
due to destruction of the interalveolar walls, decrease in lung elastic recoil, distal airspace enlargement
133
acute epiglottitis
rapidly progressive infection due to h. influenzae type B
dx: presence of edematous epiglottis that classically appears cherry red
134
monocular scotoma
partial lesion of the retina, optic disc, otic nerve
caused by macular degeneration or optic neuritis
135
right anopia
lesion at right optic nerve
caused by retinal artery or central retinal vein occlusion
136
bitemporal hemianopia
lesion at optic chiasm
caused by pressure exerted by a pitutiary tumor, craniopharyngioma, aneurysm of anterior communicating artery
137
right nasal hemianopia
lesion at right perichiasmal
caused by calcification or aneurysm of the ICA impinging on uncrossed, lateral retinal fibers
138
left homonymous hemianopia
lesion at right optic tract or optic radiation
caused by:
optic tract: occlusion of anterior choroidal artery
optic radiation: occlusion of a MCA branch or lesion at posterior limb of internal capsule
139
left homonymous superior quadrantanopia
pie in the sky
lesion at right temporal lobe or meyer's loop
caused by lesion or stroke involving temporal lobe
140
left homonymous inferior quadrantanopia
pie on the floor
lesion at right parietal lobe or dorsal optic radiation
caused by lesion or stroke of the parietal lobe
141
left homonymous hemianopia with macular sparing
lesion at right primary visual cortex in the occipital lobe
caused by occlusion of the posterior cerebral artery
macula is spared due to collateral blood from the MCA
142
leptin
decreases neuropeptide Y in the arcuate nucleus of the hypothalamus
stimulates production of POMC which cleaves a-mSH which inhibits food intake
143
Kozak sequence
analogous to the shine-dalgarno sequene in e.coli
defined by (gc)gccRccAUGG in which R is either adenine or guanine
decreases synthesis of the consensus sequence that helps start translation in eukaryotes
disrupts assembly of ribosomal subunits (60S and 40S), mRNA, initiation factors, initiator tRNA charged with methionine, GTP
144
Biotin (vitamin B7)
carboxylase enzymes
conversion of pyruvate to oxaloacetate for gluconeogenesis
can occur secondary to poor diet, excessive raw egg white consumption (biotin-binding avidin) and congenital disorders of biotin metabolism
changes in mental status, myalgias, anorexia, chronic dermatologic changes such as macular dermatitis
can also develop metabolic acidosis
145
niacin
vitamin B3 used to oxidize glucose 6 phosphate in the pentose phosphate pathway
generates NADPH and ribose-5-phosphate
146
phenoxybenzamine
irreversible a1 and a2 receptor antagonist
drug A acts as a noncompetitive antagonist or an irreversible antagonist of a1 adrenergic receptors and effectively reduces the arterial vasoconstriction induced by norepinephrine
147
11q11.2 microdeletion
digeorge syndrome
leads to neural crest failure to migrate into the derivatives of the 3rd and 4th pharyngeal pouches
148
alveolar hypoventilation
causes low PaO2 and PAO2 but normal A-a gradient1
149
gallstone ileus
presents as intermittent abdominal pain and a cholesterol containing mass at the ileocecal valve
mechanical obstruction that occurs with a large gallstone erodes into the intestinal lumen through a cholecystoenteric fistula
signs of small bowel obstruction: abdominal distension, tenderness, and high pitched bowel sounds
air in the biliary tree due to retrograde passage of intestinal gas through the fistula
150
primary myelofibrosis
atypical megakaryocytic hyperplasia that stimulates fibroblast proliferation resulting in progressive replacement of the marrow space by extensive collagen deposition
pancytopenia, hepatomegaly, splenomegaly, teardrop shapred RBCs, nucleated RBCs
mutation in JAK2 which leads to constitutively active tyrosine phosphorlyation activity and increased activation of STAT pathway
tx: ruxolitinib
151
conversion disorder
neurologic symptoms that are inconsistent with neurological disease
acute onset of muscular weakness following stress, normal neuro exam, negative work up
somatic symptom disorder characterized by symptoms or deficits of voluntary motor and or sensory function that are incompatible with any recognized neurological condition
Sx must be neurological
152
systemic mastocytosis
cloncal mast cell proliferation occurs in the bone marrow, skin, and other organs
associated with mutations in KIT receptor tyrosine kinase
characterized by prominent expression of mast cell tryptase
excessive h istamine release from degranulation mediates syncope, flushing, hypotension, pruritis, and urticaria
induces gastric acid secretion and inactivates pancreatic and intestinal enzymes to cause diarrhea
153
pseudomonas aeruginosa
non lactose fermenting, oxidase positive, gram negative rod
154
measles
fever, cough, congestion, conjunctivitis, maculopapular rash that starts on the face and moves to the trunk
vitamin A supplementation is recommended to help prevent and treat ocular complications such as keratitis and corneal ulceration
155
linezolid
MAOI activity and used to treat infections caused by gram negative bacteria such as vancomycin resistant enterococcus and mRSA resistant Staph aureus
can lead to serotonin syndrome
156
tetralogy of fallot
cyanotic spells that improve with squatting, prominent right ventricular impulse, harsh systolic murmur
abnormal neural crest cell migration leads to anterior and cephalad deviation of the infundibular septum during embryologic development
4 distinct anatomic abnormalities: VSD, overriding aorta, RVOT obstruction, RVH
157
gastrinomas
zollinger ellison syndrome
results in multiple peptic ulcers that can be located beyond the duodenal bulb and are often refractory to therapy
experience abdominal pain and acid reflux
associated with MEN1
158
essential tremor
most commonly diagnosed movement disorder
familial tremor that follows autosomal dominant inheritance
worsens while maintaining a particular posture and improve with alcohol consumption
propanolol is the first line treatment due to its CNS effects
159
transtentorial herniation
compressed structures:
CNIII: eye down and out, pupil fixed and dilated
PCA: CL homonymous hemianopsia with macular sparing
CL cerebral peduncle: ipsilateral hemiparesis
brainstem hemorrhages: pons and midbrain due to rupture of the basilar artery
160
nitrates
must be given a nitrate free interval every day so that tolerance doesn't devleop
theorized to be due to a decreased vascular sensitivity to nitrates and an increased sensitivity to endogenous vasoconstricting agents
usually timed to occur at night when the patient is sleeping and the heart is working the least
161
FFP
treatment for warfarin, coumadin, rodenticide toxiticities
replenishes clotting factors II, VII, IX, and X
also need vitamin K
162
ARR calculation
ARR=ERcontrol-ERtreatment
163
proximal tubules
this is the location in the kidneys were >60% of water is filtered by the glomerulus, regardless of the patient's hydration status
164
acute hemolytic transfusion reaction
presents with fever and chills, hypotension, dyspnea, chest and/or back pain, hemoglobinuria
can also develop DIC and renal failure
can occur within minutes to hours of a transfusion and are most often due to ABO incompatibility
example of Type II Hypersensitivity where antibodies bind the corresponding antigens on transfused donor RBCs leading to complement activation
165
TCAs
strong anticholinergic properites that can lead to significant adverse effects such as confusion, constipation, and acute urinary retention
166
if a patient comes in with major depression and has decreased libido following SSRI tx, what drug can your prescribe
buproprion
NE/DA reuptake inhibitor and does not affect serotonin
useful in treating depression with hypersomnia and low energy, causes less weight gain
CI in patients with bulimia, anorexia, and seizure Hx
167
Cori disease
usually presents in infancy or childhood with both liver and muscle involvement
sx: hypoglycemia, hepatomegaly, and ketoacidosis
muscle weakness and hypotonia
hepatic fibrosis without fatty infiltration
cytosolic accumulation of glycogen with abnormally short outer chains (limit destrins) due to debranching enzyme deficiency
168
pancreatic pseudocyst
potential complication of pancreatitis due to leakage of pancreatic secretions
induces an inflammatory reaction in the walls that leads to granulation tissue without an epithelial lining
fibrosis and thickening occur over time and takes about 4--6 weeks to occur
most common location: lesser peritoneal sac
169
carbon monoxide poisoning
carboxyhemoglobin increase
decrease in O2 carrying capacity, O2 content in blood but not the amount of oxygen dissolved in plasma or PaO2
decreased tendency for oxygen to unload in the tissues
170
pus
thin protein rich fluid and dead neutrophils
MO and endothelial cells release IL8 to trigger neutrophils to the site of infection via chemotaxis
IL8 also induces phagocytosis in neutrophils
171
Conn's syndrome
primary hyperaldosteronism: hypertension, hypokalemia, metabolic alkalosis and decreased plasma renin activity
primary treatment: surgical resection or aldosterone antagonists like spirinolocatone or eplerenone
172
q fever
zoonosis caused by coxiella burnietii
infection occurs through inhalation of bacteria infected by animal waste
acute: nonspecific febrile illness with fever lasting >10 days, fatigue, and myalgias, severe debilitating retroorbital headaches, pneumonia
chronic Q: rare, manifests as infective endocarditis in patients with valvular disease, frequently fatal
173
Stanford Type B aortic dissections
involve the descending aorta and originate close to the origin of the left subclavian artery
patient presentation: severe midback pain that started several hours ago, nauseous, diaphoresis, lightheaded
smoker with extremely high blood pressure, sinus tachy, left ventricular hypertrophy with secondary ST segment and T wave changes
174
work of breathing
for patients with stiff lungs, this is minimized when the respiratory rate is high and the tidal volume is low
for patietns with high airwary resistance (asthma and COPD), patients breath at a lower rate (slow, deep breaths) in order to minimize the work of breathing
175
What are some complications of long term untreated obstructive sleep apnea?
each nocturnal episode of reduced ventilation causes transient hypercapnia and hypoxemia which leads to vasoconstriction, endothelial dysfunction, abnormal venous return and cardiac output, and SNS
leads to pulmonary hypertension and R HF
systemic hypertension can also develop
a fib, CAD, increased risk of SCD
176
leucine zipper
c-Jun and c-Fos= nuclear transcription factors that directly bind DNA
coded by proto-oncogenes
southwestern blots are used to identify and isolate proteins that bind DNA
177
P bodies
certain mRNA associate with proteins with proteins found in these
distinct foci found within eukaryotic cells involved in mRNA regulation and turnover
178
hemosiderosis
chronic hemolytic anemia (thalassemia) depends on RBC transfusions to maintain an adequate hemoglobin level
iron overload (____)from increased iron absorption is a common complication
ferritin micelles accumulate in macrophages of RES system and rest in iron storage complexes as hemosiderin and appear on microscope as brown or yellowish brown pigments in either granular or crystalline form
179
CKD hormonal changes
increased serum phosphate, decreased serum Ca, increased FGF23, decreased calcitriol synthesis, increased PTH
180
eNOS
catalyzes the reaction of Arginine+O2 and NADPH into NO and citrulline
NO then diffuses into adjacent smooth msucle cells where it activates guanylyl cyclase and increases cGMP--> increased pkG--> decreased Ca2+ levels and relaxation of smooth muscle cells
181
name 4 opsonins
IgG
C3b
mannose binding lectin
CRP
182
HbF
a2y2
converts to HbA (a2b2) by 6 mos
high oxygen affinity because 2,3-BPG binds poorly
183
DNA polymerase I
only prokaryotic polymerase that has 5'-->3' exonuclease activity
removes the RNA primer created by RNA primase and repairs damaged DNA sequences
184
acute ureteral obstruction
increases hydrostatic pressure proximal to the constriction which is transmitted to Bowman's space and results in decreased GFR
FF=GFR:RPF ratio; decreases because GFR remains depressed to a greater extent than the RPF
185
aging of skin
UVB wavelengths predominantly absorbed in the upper dermis and contribute to sunburn and increased risk of malignancy
uVA cause photoaging by producing ROS which leads to decreased collagen fibril production and upregulation of matrix metalloproteinases that subsequently degrade type I and III collagen and elastin
increased crosslinking of collagen wih deposition of collagen breakdown products occurs
186
aspiration pneumonia
alcoholics with poor hygeine that usually result from aspiration of anaerobic oral flora (bacteroides, prevotella, fusobacterium, peptostreptococcus)
clindamycin has the most activity against oral anaerobes and also covers gram positive orgs like s. pneumo
tx: binds 50s ribosome to disrupt protein synthesis`
187
psoriasis
sharply demarcated, salmon colored, rounded plaques covered with a loosely adherent silvery white scale
Cd4+, Cd8+, dendritic cells, keratinocytes--> increased TNFa, IL 12, IFNy, IL23, IL 17
tx: vitamin D analogs (calcipotriene, calcitriol, taclcitol)
188
norovirus
most common cause of viral gastroenteritis
ssRNA linear, nonenveloped (Calicivirus)
sx: diarrhea, vomiting, fever, malaise, headache
diarrhea is watery without blood or mucus due to lack of small bowel inflammation
189
congestive heart failure
left sided: dyspnea on exertion, orthopnea, and PND
R sided: LE edema and hepatomegaly
190
oseltamivir
neuraminidase inhibitor useful in treatment of influenza A and B
required for the release of virus from infected cells and for the spread of virus within the respiratory tract
causes the newly synthesized virions to adhere to the host cell surface and form viral aggregates to reduce the spread of virus to other host cells
191
ACEi and K+ sparing diuretics
leads to an increase in risk of hyperkalemia
192
giant cell arteritis
patient presents with headache, visual, muscular symptoms, enlarged temporal artery, and increased ESR=GCA with polymyalgia rheumatica
cell mediated process with inflammatory infiltrate: CD4+ T cells, macrophages, multinucleated giant cells
produce IL6 (tx with tocilizumab)
193
hepatitis C virus
>6 genotypes at hypervariable genomic regions such as those in its 2 envelope glycoproteins
no proofreading 3'-->5' exonuclease activity built into the RNA polymerase makes many many errors
